A Case Report of Phakomatosis Pigmentovascularis in a Patient with Discoid Lupus Erythematosus and Epidermal Naevus

Case Report

Abstract

1 We report phakomatosis pigmentovascularis (PPV) detected in a 40- year- Kamran Balighi, MD old male characterized by the presence of a port-wine stain in the 1 Vahideh Lajevardi, MD background of aberrant Mongolian spots covering the back, nevus of Ota, Maryam Ghiasi, MD1 ocular melanosis, epidermal nevus and a scaly patch with the diagnosis of Farzaneh Farahani, MD1 discoid lupus erytematosus. These associations have not been reported yet. Azita Nikoo, MD2 Keywords: Phakomatosis pigmentovascularis, port-wine stain, dermal melanocytosis 1. Department of Dermatology, Razi hospital, Tehran University of Medical Science, Tehran, Iran 2. Department of Pathology, Razi hospital, Tehran University of Medical Science, Tehran, Iran

Corresponding author: Kamran Balighi, MD Department of Dermatology, Razi hospital, Vahdat-e-Eslami Square, Tehran, Iran Email :[email protected]

Received: September 11, 2007 Accepted: November 21, 2007 IJD 2008;11(1):34-37

Introduction Case Report Phakomatosis pigmentovascularis (PPV) refers to A 40-year-old white male presented with a rare cutaneous malformation characterized congenital vascular and pigmentary cutaneous predominantly by vascular and melanocytic abnormalities. On skin examination, there were components1. The vascular part consists of patchy three pink telangiectatic patches with irregular areas of port-wine stains. The melanocytic borders and without exophytic component over the component is usually in the form of dermal back which were clinically compatible with port- melanocytosis, including ocular melanosis and wine stain (fig. 1). In addition, he had a blue- gray aberrant Mongolian spots, verrucous pigmented discoloration on the left side of the face associated nevus, or flat brown-colored plaques of nevus with blue pigmentation of ipsilateral sclera .These spilus2-4. We report a case of PPV with nevus of findings are consistent with nevus of Ota (fig. 2). Ota, dermal melanocytosis, port-wine stain and Similar blue-gray patches with clinical diagnosis of epidermal nevus that can be categorized in none of Mongolian spot were noted over the back (fig. 1). the four defined types of this syndrome. In addition, We found a linear brown verrucous plaque of according to best of knowledge, we report the first epidermal nevus on his scrotum (fig. 3). instance of PPV associated with discoid lupus In addition to these congenital lesions, a well erythematosus. defined red scaly patch had appeared on his right

four subdivisions, each of which may be cutaneous disease only (type a) or cutaneous and systemic forms (type b). The basic alteration in each type is a port-wine stain. Nevus anemicus may or may not be present1–4,10-12. The cutaneous lesions may be the only component of the syndrome or it may be associated with systemic alterations, mainly ocular, skeletal, and neurologic2,6,10,11,13-15. The vascular portion consists of patchy areas of port-wine stain and the melanocytic component is usually in the form of dermal melanocytosis, including ocular melanosis, aberrant Mongolian spots, nevus of Ota, nevus spilus, and verrucous pigmented nevus (table 1)1,2,6,11,12,16. In 1987, Ruiz-Maldonado et al. described four cases who were all type II; so they considered this classification too broad to be useful for the many variants which are included16. Also Happle and Steijlen considered this subdivision under dispute, Figure 1: Dermal melanosis and port-wine stain because in their opinion the eight subtypes have the over the back same genetic origin, so they cannot be separated17. supraorbital area since three months ago (fig. 2). Clinical findings of nevus of Ota, ocular Histopathology and direct immunofluorescence melanosis, port-wine stains, aberrant Mongolian findings of this lesion revealed the diagnosis of spot and epidermal nevus in our patient are discoid lupus erythematosus. consistent with the diagnosis of PPV, but to our He had no family history of similar pigmentary or knowledge, this is a new type of this syndrome that vascular defects. His parents were not consanguineous. General physical examination including neurological and ophthalmological evaluations was unremarkable. He did not have any systemic involvements associated with lupus erythematosus or PPV. Complete blood count, liver function tests and renal function tests were normal. Anti nuclear antibodies were not found. Because of his chronic headache we performed a brain computed tumography (CT) scan which revealed no anomaly. According to these findings, the patient had PPV and discoid lupus erythematosus simultaneously. Discussion Phakomatosis pigmentovascularis refers to a rare cutaneous malformation characterized predominantly by vascular and melanocytic components. The association of cutaneous vascular malformations with pigmentary nevi was first described by Ota et al. in 1947,5 who proposed the term “phakomatosis pigmentovascularis”6.The first case of PPV had a port-wine stain associated with a pigmented and verrucous nevus5. To date, only three other cases similar to this one have been published7-9. Most of the cases with PPV reported in Figure 2: Left sided Ota nevus and discoid lupus the literature are Japanese. Hasegawa and erythematosus on right supra orbital area Yasuhara4 proposed a classification of PPV with

Vol 11, No 1, Spring 2008 35 A Case Report of Phakomatosis Pigmentovascularis cannot be categorized in any of previous types I-IV. The pathogenesis of PPV is still controversial; it Cutaneous findings consistent with PPV require has been proposed that the combination of vascular careful clinical examination, appropriate and pigmentary anomalies arises as a result of a radiological investigation, and referral to other genetic concept called the twin-spotting specialties, such as neurology and ophthalmology, phenomenon26,27. to investigate the possibility of extracutaneous In 1993, Happle28 speculated that PPV was manifestations of the syndrome. No other triggered by human mosaicism, hypothesizing that abnormalities were observed on general physical, the most important factor related to the onset of PPV was an allelic mutation. The presence of perivascular nerves suggests the hypothesis that abnormal neuromodulation may play a role in the vascular component of PPV and may explain the frequent co-existence of port-wine stain and nevus anemicus28. In conclusion, the lack of precise knowledge about the pathogenesis and the genetics of this group of diseases dose not yet allow us to develop a diagnostic algorithm and a precise scheme for the associations of the disease. However, our case is remarkable because of its unusual manifestations and its association with discoid lupus erythematosus, which has not been reported previously. Figure 3: Epidermal nevus on the scrotum References neurological and ophthalmological examinations in 1. Mahroughan M, Mehregan AH, Mehregan DA. this patient, compatible with type a of PPV. Phakomatosis pigmentovascularis: report of a case. Among the known subtypes of PPV, type II is the Pediatr Dermatol 1996;13:36–38. most common form (80%). Types I, III, and IV are 2. Van Gysel D, Oranje AP, Stroink H, Simonsz HJ. rare and only a few cases are described in the Phakomatosis pigmentovascularis. Pediatr Dermatol literature6. The real incidence of PPV is difficult to 1996;13:33–35. evaluate because most of the patients without 3. Hasegawa Y, Yasuhara M. A variant of phakomatosis visceral involvement are not reported6. pigmentovascularis. Skin Res 1979;21:178–186. 4. Hasegawa Y, Yasuhara M. A variant of phakomatosis The most common systemic associations with PPV pigmentovascularis type IVa. Arch Dermatol 13-15 are Sturge-Weber syndrome and Klippel- 1985;121:651–655. Trénaunay syndrome11,16. Other associated findings 5. Ota M, Kawamura T, Ito N. Phakomatosis are temporal alopecia19, malignant colon pigmentovascularis (Ota). Jpn J Dermatol 1947;52:1– polyposis20, scoliosis and leg-length discrepancy3, 3. hypoplastic larynx and subglottic stenosis21, multiple 6. Du LC, Delaporte E, Catteau B,et al. Phakomatosis granular cell tumor22, selective IgA deficiency23, iris pigmentovascularis type II. Eur J Dermatol hamartomas24 and generalized vitiligo25. Although 1998;8:569–572. there are several associated pigmentary and 7. Adamson HG. Naevus linearism it verrukosen und systemic involvements in PPV, discoid lupus vaskulosen komplikationen. Monatshefte Prakt Dermatol 1910; 51: 513 erythematosus has not been reported in association 8. Best. Multiple nevi (vascular,pigment and verrucous). with this syndrome. These alterations are very Arch Dermatol 1926;13:836-838. diverse, so they may only be incidental findings and 9. MacKee W.Angioma and verrucous nevus. Arch not constant associations. Dermatol 1926;14:230. 10. Bielsa I, Paradelo C, Riberta M, Riberta M. Table 1. Classification of phakomatosisp Generalized nevus spilus and nevus anemicus in a Pigmentovascularis patient with a primary lymphedema: a new type of Type Subtypes Characteristics phakomatosis pigmentovascularis? Pediatr Dermatol I a or b port-wine stain, nevus pigmentos verrucosus 1998; 15:293–295. II a or b port-wine stain, blue spots 11. Di Landro A, Tadini L, Marchesi L, Cainelli T. III a or b port-wine stain, blue spots Phakomatosis pigmentovascularis: a new case with IV a or b port-wine stain, blue spots, nevus spilus renal angiomas and some consideration about the A: cutaneous disease only; b: cutaneous and systemic disease classification. Pediatr Dermatol 1999; 16:25–30.

12. Mandt N, Blume-Peytavi U, Pfrommer C,et al. 21. Leung AKC,Lowry RB,Mitchell I,et al.Klippel Trenaunay Phakomatosis pigmentovascularis type IIa. J Am Acad and Sturge-Weber syndrome with extensive Mongolian Dermatol 1999; 40:318–321. spots, hypoplastic larynx and subglottic stenosis. Clin 13. Leung AKC, Lowry RB, Mitchell I, et al. Klippel- Exp Dermatol 1988;13:128-132. Trenaunay and Sturge-Weber syndrome with extensive 22. Guiglia MC, Prendiville JS. Multiple granular cell mongolian spots, hypoplastic larynx and subglottic tumors associated with giant speckled lentiginous nevus stenosis. Clin Exp Dermatol 1988; 13:128–132. and nevus flammeus in a child. J Am Acad Dermatol 14. Uysal G, Guven A, Ozhan B, et al. Phakomatosis 1991;24:359-363. pigmentovascularis with Sturge-Weber syndrome: a 23. de Luna ML, Barquin MA, Casas IG, Sidelsky S. case report. J Dermatol 2000;27:467-70. Phakomatosis pigmentovascularis with a selective IgA 15. Phakomatosis pigmentovascularis with Sturge-Weber deficiency . Pediatr Dermatol 1995;12:159-163. syndrome: a case report. J Dermatol 2000;27:467– 24. Gilliam AC, Ragge NK, Perez MI, Bolognia JL. 470. Phakomatosis pigmentovascularis type IIb with iris 16. Tsuruta D, Fukai K, Seto M, et al. Phakomatosis mammillations. Arch Dermatol 1993;129:340–342. pigmentovascularis type IIIb associated with moyamoya 25. Kim YC, Park HJ, Cinn YW. Phakomatosis disease. Pediatr Dermatol 1999;16:35–38. pigmentovascularis type IIa with generalized vitiligo. Br 17. Ruiz-Maldonado R, Tamayo L, Laterza AM ,et al. J Dermatol 2002; 147:1028-9 Phakomatosis pigmentovascularis :a new syndrome. 26. Tadini G, Restano L, Gonzalez-Perez R, et al. Pediatr Dermatol 1987;4:189-196. Phacomatosis pigmentokeratotica: report of new cases 18. Happle R, Steijlen PM. Phacomatosis and further delineation of the syndrome. Arch Dermatol pigmentovascularis gedeutet als ein phanomen der 1998; 134:333-7. zwillingsflecken . Hautarzt 1989;40:721-724. 27. Happle R. Allelic somatic mutations may explain 19. Kikuchi I, Okazaki M. Congenital temporal alopecia in vascular twin nevi. Hum Genet 1991;86:321-2. phakomatosis pigmentovascularis.J Dermatol 1982 ; 9: 28. Happle R. Mosaicism in human skin. Arch Dermatol 485-487. 1993;129:1460-70. 20. Horio T, Ogawa M. Pigmentovascular nevus. Arch Dermatol 1973;107:463-464.

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